A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17429762



Internal ID22487632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrX:121940256..127968067hg38UCSC Ensembl
chrX:121074109..127102046hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg386027812
hg196027938
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5979696
Supporting Variants
Samples
Known GenesCXorf64, DCAF12L1, DCAF12L2, GRIA3, LOC100129520, SH2D1A, STAG2, TENM1, THOC2, XIAP
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17429762
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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